Current status of SOD1 mutations in familial amyotrophic lateral sclerosis

Gaudette Mara, Makito Hirano, Teepu Siddique*

*Corresponding author for this work

Research output: Contribution to journalReview article

103 Scopus citations

Abstract

Twenty percent of cases of familial amyotrophic lateral sclerosis (FALS) have identifiable mutations in the gene for Cu,Zn superoxide dismutase (SOD1) located on the long arm of chromosome 21. SOD1 mutations are thought to cause a yet unknown toxic gain of function resulting in motor neuron damage. Seventy-one mutations, located in all five exons of SOD1, have been reported. Identified mutations are predominantly heterozygous mis-sense mutations, although rare nonsense mutations, deletions, and insertions exist. While gene dosage has an effect on the age of onset, genotoype/phenotype correlation is better defined for progression of symptoms than for disease onset. (ALS 2000; 1:83-89)

Original languageEnglish (US)
Pages (from-to)83-89
Number of pages7
JournalAmyotrophic Lateral Sclerosis and Other Motor Neuron Disorders
Volume1
Issue number2
DOIs
StatePublished - Dec 1 2000

Keywords

  • amyotrophic lateral sclerosis
  • superoxide dismutase

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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